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Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics
This book demonstrates that a pandemic of coronary heart disease occurred in North America, western and northern Europe, and Australia and New Zealand from the 1930s to about 2000. At its peak it caused more deaths than any other disease. The book examines and compares trends in coronary heart disease mortality rates for individual countries. The most detailed analyses are for the United States, where mortality rates are examined for race, sex, and age groups and for geographic regions. Popular explanations for the rise and fall of coronary heart disease mortality rates are examined.
Using real data sets throughout, Survival Analysis in Medicine and Genetics introduces the latest methods for analyzing high-dimensional survival data. It provides thorough coverage of recent statistical developments in the medical and genetics fields. The text mainly addresses special concerns of the survival model. After covering the fundamentals, it discusses interval censoring, nonparametric and semiparametric hazard regression, multivariate survival data analysis, the sub-distribution method for competing risks data, the cure rate model, and Bayesian inference methods. The authors then focus on time-dependent diagnostic medicine and high-dimensional genetic data analysis. Many of the methods are illustrated with clinical examples. Emphasizing the applications of survival analysis techniques in genetics, this book presents a statistical framework for burgeoning research in this area and offers a set of established approaches for statistical analysis. It reveals a new way of looking at how predictors are associated with censored survival time and extracts novel statistical genetic methods for censored survival time outcome from the vast amount of research results in genomics.
In the World Library of Psychologists series, international experts present career-long collections of what they judge to be their finest pieces - extracts from books, key articles, salient research findings, and their major practical theoretical contributions. In this fascinating collection, Professor Gordon Claridge charts the development of a model of mental health that blurs the line between madness and sanity, conditions such as schizophrenia and other forms of psychosis seen as dimensions of 'normal' personality and temperament rather than separate abnormalities. Working with, and influenced by, the late Hans Eysenck, Claridge is celebrated for evolving research on personality and psychological disorders into a revised view of the spectrum of psychotic traits. The concept of schizotypy, re-evaluated by Claridge, sees mental illness not as a pathology suffered by a few, but as the end of a continuum experienced by us all. Psychopathology and Personality Dimensions brings together some of the author's most influential publications on the topics of schizotypy and psychoticism, personality disorders, and the use of drug techniques to investigate normal and abnormal individual differences. Interspersed throughout with specially-written retrospectives by Professor Claridge, looking back at his work and contextualising where it sits in the wider literature, the collection illustrates a radical and influential model of mental illness that continues to resonate today. This book is an essential resource for all those engaged or interested in the field of personality and psychological disorders.
Different genetic diagnostic and treatment options are used worldwide to improve routine IVF procedures for the benefit of patients. This handbook updates the new genetic diagnostic technologies that have been translated to the clinic, aiming to improve outcomes in the clinic and result in a healthy baby in the home. Chapters cover the use of genetic technologies in a personalized manner to unravel the possible genetic risks for the couple wishing to conceive, in terms of sperm, the embryo, the endometrium, miscarriage, and finally the fetus. This expanded new edition covers the range of the latest genetic diagnostic technologies being translated into practice internationally to improve routine IVF procedures for the benefit of patients. Bringing together international experts to discuss their work, this text gives a context for the developments in this very fast-moving area of research and offers a comprehensive and rounded appraisal of hot topics.
Provides clear summaries of Fluorescence in situ hybridization technologies and others. Comprehensively covers established and emerging methods. Chapters from an international team of leading researchers. Useful for students, researchers and clinicians.
1) General description of the Genetic Polymorphism and its various types 2) Discuss the role of Genetic Polymorphisms in modulating risk of various human diseases 3) Discuss various molecular techniques used for detecting GPs 4) Discuss the role of SNPs in modulating the susceptibility of human diseases 5) Genetic basis for individual variations in response to therapeutics
The burgeoning new science of epigenetics offers a cornucopia of insights some comforting, some frightening. For example, the male fetus may be especially vulnerable to certain common chemicals in our environment, in ways that damage not only his own sperm but also the sperm of his sons. And it s epigenetics that causes identical twins to vary widely in their susceptibility to dementia and cancer. But here s the good news: unlike mutations, epigenetic effects are reversible. Indeed, epigenetic engineering is the future of medicine."
This title reviews current knowledge of the mechanisms contributing to heart failure. Editor Richard Walsh and an internationally renowned team of contributors discuss key advances in molecular and cell biology, biochemistry, and pharmacology, focusing on advances that have a direct bearing on current clinical studies. It highlights developments across a broad range of disciplines, with in-depth coverage of each topic providing background and perspective on current literature. By setting new advances in a broader context, this text allows readers to compare different ideas and evaluate their importance in their own areas of research or clinical practice.
This detailed book explores the concepts and applications of epigenome editing, as presented by leading scientists in the field. Beginning with some general and topical reviews, the collection continues by covering the design of DNA-binding devices, optimization of the effector domains, readout of epigenome marks, and approaches for delivery at the cellular and organismal level. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Epigenome Editing: Methods and Protocols will be of great assistance to people new to the field but also to those already engaged, as epigenetic editing is still a relatively unexplored field with many issues to be resolved.
Personalized nutrition involves the formulation of individualized nutritional recommendations to promote and maintain health based on an individual's genetic makeup and other unique intrinsic and extrinsic factors. Implementing personalized nutrition plans for individuals with certain diseases or who are in danger of developing health conditions could help control the onset and severity of symptoms. Personalized Nutrition as Medical Therapy for High-Risk Diseases offers a practical guide for physicians seeking to provide tailored dietary recommendations to their patients with disease treatment, modulation and prevention in mind. The book focuses on the biological mechanisms of specific diseases and provides evidence for how personalized nutrition positively impacts them. It explores conditions including cardiovascular diseases, hypertension, hypercholesteromia, diabetes, obesity, Crohn's disease, as well as multiple pediatric, renal and psychological disorders. Features: * Includes case studies that document how people respond differently towards food depending on their genetic structure and other factors. * Discusses genome wide association studies (GWIMS) to understand the interplay between genetic susceptibility and dietary interactions. * Provides users information to effectively implement personalized nutrition into practice. * Identifies possible challenges to the implementation of personalized nutritional interventions in a clinical setting. This book is for medical practitioners and will also appeal to researchers and students.
Statistical Methods for Survival Trial Design: With Applications to Cancer Clinical Trials Using R provides a thorough presentation of the principles of designing and monitoring cancer clinical trials in which time-to-event is the primary endpoint. Traditional cancer trial designs with time-to-event endpoints are often limited to the exponential model or proportional hazards model. In practice, however, those model assumptions may not be satisfied for long-term survival trials. This book is the first to cover comprehensively the many newly developed methodologies for survival trial design, including trial design under the Weibull survival models; extensions of the sample size calculations under the proportional hazard models; and trial design under mixture cure models, complex survival models, Cox regression models, and competing-risk models. A general sequential procedure based on the sequential conditional probability ratio test is also implemented for survival trial monitoring. All methodologies are presented with sufficient detail for interested researchers or graduate students.
Advances in genetics and related biotechnologies are having a profound effect on sport, raising important ethical questions about the limits and possibilities of the human body. Drawing on real case studies and grounded in rigorous scientific evidence, this book offers an ethical critique of current practices and explores the intersection of genetics, ethics and sport. Written by two of the world's leading authorities on the ethics of biotechnology in sport, the book addresses the philosophical implications of the latest scientific developments and technological data. Distinguishing fact from popular myth and science fiction, it covers key topics such as the genetic basis of sport performance and the role of genetic testing in talent identification and development. Its ten chapters discuss current debates surrounding issues such as the shifting relationship between genetics, sports medicine and sports science, gene enhancement, gene transfer technology, doping and disability sport. The first book to be published on this important subject in more than a decade, this is fascinating reading for anyone with an interest in the ethics of sport, bioethics or sport performance.
This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to tools in model animal studies. Key Features Explores the role of cilia in polycystic kidney disease Focuses on myriad state-of-the-art methods and techniques Reviews specific mutations integral to this autosomal genetic disease Includes discussions of model systems
Control is a book about eugenics, what geneticist Adam Rutherford calls "a defining idea of the twentieth century." Inspired by Darwin's ideas about evolution, eugenics arose in Victorian England as a theory for improving the British population, and quickly spread to America, where it was embraced by presidents, funded by Gilded Age monopolists, and enshrined into racist American laws that became the ideological cornerstone of the Third Reich. Despite this horrific legacy, eugenics looms large today as the advances in genetics in the last thirty years-from the sequencing of the human genome to modern gene editing techniques-have brought the idea of population purification back into the mainstream. Eugenics has "a short history, but a long past," Rutherford writes. The first half of Control is the history of an idea, from its roots in key philosophical texts of the classical world all the way into their genocidal enactment in the twentieth century. The second part of the book explores how eugenics operates today, as part of our language and culture, as part of current political and racial discussions, and as an eternal temptation to powerful people who wish to improve society through reproductive control. With disarming wit and scientific precision, Rutherford explains why eugenics still figures prominently in the twenty-first century, despite its genocidal past. And he confronts insidious recurring questions-did eugenics work in Nazi Germany? And could it work today?-revealing the intellectual bankruptcy of the idea, and the scientific impossibility of its realization.
Adenoviruses are double stranded DNA viruses that have been used to study the process of DNA replication. Studies of the mode of action of adenovirally produced tumors in rodents led to the discovery of tumour supressor genes. The adenoviral vector is now the most used vector in clinical gene therapy especially for some kinds of cancers. The chapters in this book focus on the most up-to-date developments in the therapeutic applications of adenoviruses. The intended audience is individuals in the Life Sciences interested in therapeutic applications of adenoviruses. This book reviews the life history and immune responses to adenoviruses and summarizes various therapies implemented with the use of adenoviruses.
This title includes a number of Open Access chapters. This book examines conserved pathways mediating cell cycle progression and cell polarity establishment. It includes examples of yeast, regulatory circuits, and feedback regulation, with emphasis on system-wide approaches. It also covers protein interaction networks and trait locus analysis and presents methods and challenges in comparative genomics analysis and evolutionary genetics.
Epigenetics in Organ Specific Disorders, a new volume in the Translational Epigenetics series, provides a foundational overview and nuanced analysis of epigenetic gene regulation distinct to each organ type and organ specific disorders, fully elucidating the epigenetics pathways that promote and regulate disease. After a brief introduction, chapter authors compare epigenetic regulations across normal and disease conditions in different organ tissues, exploring similarities and contrasts. The role of epigenetic mechanisms in stem cells, cell-matrix interactions and cell proliferation, cell migration, cellular apoptosis, necrosis, pyknosis, tumor suppression, and immune responses across different organ types are examined in-depth. Organ specific epigenetic mechanisms and biomarkers of early use in developing drugs, which can selectively target the organ of interest, are also explored to enable new precision therapies.
The Trouble with Twin Studies questions popular genetic explanations of human behavioral differences based upon the existing body of twin research. Psychologist Jay Joseph outlines the fallacies of twin studies in the context of the ongoing decades-long failure to discover genes for human behavioral differences, including IQ, personality, and the major psychiatric disorders. This volume critically examines twin research, with a special emphasis on reared-apart twin studies, and incorporates new and updated perspectives, analyses, arguments, and evidence.
Genome-editing methods are becoming routine tools for molecular and cell biologists. Such tools include ZFNs, CRISPR, megaTALs and TALENs. These tools are revolutionizing the creation of precisely manipulated genomes to modify the characteristics of organisms or cells. Additionally, gene drives have altered the way we understand inheritance laws. They give us the ability to have total control of the inheritance of traits of choice and importance. This succinct volume summarizes the history, principles and applications - as well as the advantages and disadvantages - of each of these tools and various kinds of gene drives. The book is part of a program to produce books helpful to students and faculties of science at colleges and universities. This volume in the Pocket Guides to Biomedical Sciences series will help demystify these technologies. The book fills the gap between established conventional methods and the novel and exciting newly introduced tools of genome editing and gene drives. It will help young scientists understand the emerging genome-editing tools and gene drives, thereby promoting related research and adoption. Key Features Extensively reviews the current genome-editing tools and gene drives Clarifies the targeting mechanisms and specificity of genome-editing tools Details many different types of natural and synthetic gene drives Highlights concerns with gene drives and genome-editing tools Related Titles Brown, T. A. Genomes 4 (ISBN 978-0-8153-4508-4) Samuelsson, T. The Human Genome in Health and Disease: A Story in Four Letters (ISBN 978-0-8153-4591-6) Soh, J., et al. Genome Annotation (ISBN 978-1-4398-4117-4)
Among the offspring of humans and other animals are occasional individuals that are malformed in whole or in part. The most grossly abnormal of these have been referred to from ancient times as monsters, because their birth was thought to foretell doom; the less severely affected are usually known as anomalies. This volume digs deeply into the cellular and molecular processes of embryonic development that go awry in such exceptional situations. It focuses on the physical mechanisms of how genes instruct cells to build anatomy, as well as the underlying forces of evolution that shaped these mechanisms over eons of geologic time. The narrative is framed in a historical perspective that should help students trying to make sense of these complex subjects. Each chapter is written in the style of a Sherlock Holmes story, starting with the clues and ending with a solution to the mystery.
Recent advances in high-throughput gene sequencing and other omics biotechnologies have served as a springboard for the field of pharmacogenomics. Pharmacogenomics is now generally accepted as the major determinant of variable drug safety, efficacy, and cost-effectiveness. Therefore, widespread use of pharmacogenomics for patient care has become a critical requirement. There is an unprecedented urgency for aspiring and practicing clinicians to become trained on how to interpret data from pharmacogenomic testing in preparation for the future of healthcare-i.e., personalized medicine. Applying Pharmacogenomics in Therapeutics provides timely coverage of the principles, practice, and potential of pharmacogenomics and personalized medicine. Comprised of chapters contributed by well-established pharmacologists and scientists from US and Chinese academia and industry, this authoritative text: Demonstrates how to apply the principles of pharmacogenomics and its biotechnologies in patient care Depicts the use of genetic biomarkers in drug discovery and development, laboratory medicine, and clinical services Describes the practice of pharmacogenomics in the treatment of cancers, cardiovascular diseases, neurologic and psychiatric disorders, and pulmonary diseases Discusses the merging of pharmacogenomics and alternative medicine, as well as the integration of pharmacogenomics into pharmacoeconomics Each chapter begins with the key concepts, followed by in-depth explorations of case reports or critical evaluations of genetic variants/biomarkers, and concludes with questions for self-examination.
This book explores the recent advances in the techniques and platforms used in biomarker research that have revolutionized the way we study, diagnose, and treat brain injury conditions. The contributors describe different biomarker studies pertaining to brain injury and other neurological disorders and analyze the different models and technologies used to identify these biological markers. The book includes findings from "Omics research" that have been utilized to decipher and identify such biomarkers. It discusses protein, microRNA, and altered gene profiles and reviews neurological disorders such as multiple sclerosis, Charcot-Marie-Tooth disease, and prion and Alzheimer's disease.
The book provides scope and knowledge on advanced techniques and its applications into the modern fields of biotechnology-genomics and proteomics. In this book, different genomics and proteomics technologies and principles are examined. The fundamental knowledge presented in this book opens up an entirely new way of approaching DNA chip technology, DNA array assembly, gene expression analysis, assessing changes in genomic DNA, structure-based functional genomics, protein networks, and so on. Topics in the book include: * Different gene products with a similar role in neuronal defense against oxidative * Gene-gene and gene-environment interactions in genetic epidemiology * Elucidation of proto-oncogene c-abl function with the use of mouse models and the disease model of chronic myeloid leukemia * Next-generation sequencing, microbiome evaluation, molecular microbiology, and their impact on human health * Proteomics and prostate cancer * RNA interference therapeutics * Molecular mechanisms of hepatitis C virus entry * Molecular phylogenetics for elucidation of evolutionary processes from biological data * The impact of transgenic crops on soil quality, microbial diversity, and plant-associated communities. * Biotechnological and genomic approaches for abiotic stress tolerance in crop plants The book will be valuable for biotechnology researchers and bioinformatics professionals and students in all fields of biotechnology and will serve to broaden their knowledge about these newer tools, techniques, innovations, and applications. |
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